タナベ ケンジ
  田邊 賢司
   所属   研究施設 研究施設
   職種   准教授
論文種別 総説
言語種別 英語
査読の有無 査読あり
表題 Dynamin 2 in charcot-marie-tooth disease.
掲載誌名 正式名:Acta medica Okayama
巻・号・頁 66,183-190頁
著者・共著者 Tanabe K. and Takei K.
発行年月 2012
概要 Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton. A large GTPase, dynamin, which is known as a fission protein for endocytic vesicles, was identified as a gene responsible for dominant-intermediate CMT type 2B (DI-CMT2B). Of these mutants, the PH domain, which is required for interaction with phosphoinositides, was mutated in several families. Interestingly, the expression of a deletion mutant, 551Δ3, did not impair endocytosis, but induced abnormal accumulation of microtubules. Recent evidence has shown that dynamin 2 regulates the dynamic instability of microtubules, and 551Δ3 lacks this function. We propose a model for the regulation of the dynamic instability of microtubules by dynamin 2 and discuss the relationship between dynamin 2 and CMT.